Canonical Allele Identifier: CA327931

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55189
• ClinVar RCV Id: RCV000577760 ; RCV000661099
• dbSNP Id: rs80357916
• gnomAD v4: 17-43076580-A-AG
• MyVariant Identifiers: chr17:g.41228598dupG (hg19) ; chr17:g.41228597_41228598insG (hg19) ; chr17:g.43076581dupG (hg38) ; chr17:g.43076580_43076581insG (hg38)
• PubMed: PMID:20858050

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076583dup , CM000679.2:g.43076583dup	GRCh38
NC_000017.10:g.41228600dup , CM000679.1:g.41228600dup	GRCh37
NC_000017.9:g.38482126dup	NCBI36
NG_005905.2:g.141403dup , LRG_292:g.141403dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4388dup	ENSP00000417241.2:p.Ile1464TyrfsTer11
ENST00000470026.6:c.4391dup	ENSP00000419274.2:p.Ile1465TyrfsTer11
ENST00000473961.6:c.4265dup	ENSP00000420201.2:p.Ile1423TyrfsTer11
ENST00000476777.6:c.4385dup	ENSP00000417554.2:p.Ile1463TyrfsTer11
ENST00000477152.6:c.4313dup	ENSP00000419988.2:p.Ile1439TyrfsTer11
ENST00000478531.6:c.1079dup	ENSP00000420412.2:p.Ile361TyrfsTer11
ENST00000489037.2:c.4313dup	ENSP00000420781.2:p.Ile1439TyrfsTer11
ENST00000493919.6:c.941dup	ENSP00000418819.2:p.Ile315TyrfsTer11
ENST00000494123.6:c.4391dup	ENSP00000419103.2:p.Ile1465TyrfsTer11
ENST00000497488.2:c.3503dup	ENSP00000418986.2:p.Ile1169TyrfsTer11
ENST00000618469.2:c.4391dup	ENSP00000478114.2:p.Ile1465TyrfsTer11
ENST00000634433.2:c.4268dup	ENSP00000489431.2:p.Ile1424TyrfsTer11
ENST00000644379.2:c.4457dup	ENSP00000496570.2:p.Ile1487TyrfsTer11
ENST00000644555.2:c.941dup	ENSP00000494614.2:p.Ile315TyrfsTer11
ENST00000652672.2:c.4250dup	ENSP00000498906.2:p.Ile1418TyrfsTer11
ENST00000484087.6:c.953dup	ENSP00000419481.2:p.Ile319TyrfsTer11
ENST00000700182.1:c.998dup	ENSP00000514849.1:p.Ile334TyrfsTer11
ENST00000357654.9:c.4391dup MANE Select	ENSP00000350283.3:p.Ile1465TyrfsTer11
ENST00000471181.7:c.4454dup	ENSP00000418960.2:p.Ile1486TyrfsTer11
ENST00000644379.1:c.778dup
ENST00000352993.7:c.965dup	ENSP00000312236.5:p.Ile323TyrfsTer11
ENST00000357654.7:c.4391dup	ENSP00000350283.3:p.Ile1465TyrfsTer11
ENST00000461221.5:c.*4174dup	ENSP00000418548.1:n.*4174dup
ENST00000461574.1:c.682dup
ENST00000468300.5:c.1079dup	ENSP00000417148.1:p.Ile361TyrfsTer11
ENST00000471181.6:c.4454dup	ENSP00000418960.2:p.Ile1486TyrfsTer11
ENST00000478531.5:c.1079dup	ENSP00000420412.1:p.Ile361TyrfsTer11
ENST00000484087.5:c.704dup	ENSP00000419481.1:p.Ile236TyrfsTer11
ENST00000487825.5:c.707dup	ENSP00000418212.1:p.Ile237TyrfsTer11
ENST00000491747.6:c.1079dup	ENSP00000420705.2:p.Ile361TyrfsTer11
ENST00000493795.5:c.4250dup	ENSP00000418775.1:p.Ile1418TyrfsTer11
ENST00000493919.5:c.941dup	ENSP00000418819.1:p.Ile315TyrfsTer11
ENST00000586385.5:c.5-12630dup	ENSP00000465818.1:n.5-12630dup
ENST00000591534.5:c.-43-2060dup	ENSP00000467329.1:n.-43-2060dup
ENST00000591849.5:c.-98-26391dup	ENSP00000465347.1:n.-98-26391dup
ENST00000621897.1:n.282dup
NM_007294.3:c.4391dup , LRG_292t1:c.4391dup	NP_009225.1:p.Ile1465TyrfsTer11
NM_007297.3:c.4250dup	NP_009228.2:p.Ile1418TyrfsTer11
NM_007298.3:c.1079dup	NP_009229.2:p.Ile361TyrfsTer11
NM_007299.3:c.1079dup	NP_009230.2:p.Ile361TyrfsTer11
NM_007300.3:c.4454dup	NP_009231.2:p.Ile1486TyrfsTer11
NR_027676.1:n.4527dup
NM_007294.4:c.4391dup MANE Select	NP_009225.1:p.Ile1465TyrfsTer11
NM_007297.4:c.4250dup	NP_009228.2:p.Ile1418TyrfsTer11
NM_007299.4:c.1079dup	NP_009230.2:p.Ile361TyrfsTer11
NM_007300.4:c.4454dup	NP_009231.2:p.Ile1486TyrfsTer11
NR_027676.2:n.4568dup